Variant #0000527003 (NC_000006.11:g.118869503G>A, PLN(NM_002667.3):c.-150G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.118869503G>A
DNA change (hg38) g.118548340G>A
Published as PLN(NM_002667.3):c.-150G>A
ISCN -
DB-ID PLN_000036
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP85L NM_001042475.2 -/. - c.1020+17189C>T r.(=) p.(=)
PLN NM_002667.3 -/. - c.-150G>A r.(?) p.(=)